Canonical Allele Identifier: CA406015370

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424497C>A , CM000681.2:g.41424497C>A	GRCh38
NC_000019.9:g.41930402C>A , CM000681.1:g.41930402C>A	GRCh37
NC_000019.8:g.46622242C>A	NCBI36
NG_013004.1:g.31709C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000709.4:c.1227C>A MANE Select	NP_000700.1:p.Phe409Leu
ENST00000269980.7:c.1227C>A MANE Select	ENSP00000269980.2:p.Phe409Leu
NM_000709.3:c.1227C>A	NP_000700.1:p.Phe409Leu
NM_001164783.1:c.1224C>A	NP_001158255.1:p.Phe408Leu
NM_001164783.2:c.1224C>A	NP_001158255.1:p.Phe408Leu
ENST00000269980.6:c.1227C>A	ENSP00000269980.2:p.Phe409Leu
ENST00000457836.6:c.1236C>A	ENSP00000416000.2:p.Phe412Leu
ENST00000540732.3:c.1329C>A	ENSP00000443246.1:p.Phe443Leu
ENST00000544905.1:c.62-5C>A
ENST00000595085.5:c.922+1800C>A	ENSP00000471150.2:n.922+1800C>A